American Journal of Human Genetics

- Professor Jaewon Ko’s research team at DGIST, in collaboration with international researchers, identified that the loss of function of the MDGA2 gene induces severe developmental and epileptic encephalopathy - This discovery is expected to pave the way for early diagnosis and the development of new therapies

Recurrent miscarriages (RM) cause frustration and trauma to couples who want to have a child. However, not all couples can find out about the underlying reasons because of medical constraints. The Department of Obstetrics and Gynaecology (O&G) of the Faculty of Medicine at The Chinese University of Hong Kong (CU Medicine) has successfully developed a new genome sequencing test called ChromoSeq to identify the genetic defects for married couples, who suffered from RM. When compared with the conventional karyotyping analysis, ChromoSeq offers greater accuracy in detecting potential genetic abnormalities associated with RM in affected couples. The team conducted a study on the innovation and the findings were recently published in the international journal American Journal of Human Genetics.